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NM_004360.5(CDH1):c.-7G>A AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 24, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004018404.1

Allele description [Variation Report for NM_004360.5(CDH1):c.-7G>A]

NM_004360.5(CDH1):c.-7G>A

Gene:
CDH1:cadherin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_004360.5(CDH1):c.-7G>A
HGVS:
  • NC_000016.10:g.68737409G>A
  • NG_008021.1:g.5118G>A
  • NG_193711.1:g.172G>A
  • NM_001317184.2:c.-7G>A
  • NM_001317185.2:c.-1622G>A
  • NM_001317186.2:c.-1826G>A
  • NM_004360.5:c.-7G>AMANE SELECT
  • LRG_301t1:c.-7G>A
  • LRG_301:g.5118G>A
  • NC_000016.9:g.68771312G>A
  • NM_004360.3:c.-7G>A
Molecular consequence:
  • NM_001317184.2:c.-7G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317185.2:c.-1622G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317186.2:c.-1826G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_004360.5:c.-7G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004848955Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 24, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004848955.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.-7G>A alteration is located in the 5' untranslated region (5'UTR) of the CDH1 gene. This alteration consists of a G to A substitution nucleotides upstream from the first translated codon. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024